Association of varicose veins with rare protein-truncating variants in PIEZO1 identified by exome sequencing of a large clinical population
Journal of Vascular Surgery: Venous and Lymphatic Disorders(2022)
摘要
Rare PTVs in PIEZO1 but not CASZ1 were associated with varicose veins and the need for vein ablation therapy. These results have demonstrated that PTVs in the PIEZO1 gene are rare but represent strong genetic risk factors for varicose veins and the need for vein ablation therapy. These results have also identified a potential biologic mechanism and target for the development of novel therapies.
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关键词
Varicose veins,Exome,Electronic health records,Risk factors,Frameshift mutation
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